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| Product Data | |
| Description | Recombinant protein of human DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1 |
| Species | Human |
| Expression Host | HEK293T |
| Expression cDNA Clone or AA Sequence | Recombinant protein was produced with TrueORF clone, RC223206. Click on the TrueORF clone link to view cDNA and protein sequences. |
| Tag | C-Myc/DDK |
| Predicted MW | 95.6 kDa |
| Concentration | >50 ug/mL as determined by microplate BCA method |
| Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
| Buffer | 10mM NaCl, 20 mM Phosphate buffer, pH7.6 |
| Bioactivity | Surface Plasmon Ressonance (SPR) (PMID: 27468168) |
| Reference Data | |
| Locus ID | 1789 |
| Refseq Size | 4353 |
| Cytogenetics | 20q11.21 |
| Refseq ORF | 2559 |
| Synonyms | ICF; ICF1; M.HsaIIIB |
| Summary | CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] |
| Protein Families | Druggable Genome, Embryonic stem cells, Induced pluripotent stem cells, Stem cell - Pluripotency |
| Protein Pathways | Cysteine and methionine metabolism, Metabolic pathways |
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